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01.06.2007 | Original Research

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

verfasst von: Edenir Inez Palmero, Patricia Ashton-Prolla, José Cláudio C. da Rocha, Fernando Regla Vargas, Luciane Kalakun, Melissa Brauner Blom, Sérgio J. Azevedo, Maira Caleffi, Roberto Giugliani, Lavinia Schüler-Faccini

Erschienen in: Journal of Genetic Counseling | Ausgabe 3/2007

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Abstract

Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.

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Titel: Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil
verfasst von: Edenir Inez Palmero
Patricia Ashton-Prolla
José Cláudio C. da Rocha
Fernando Regla Vargas
Luciane Kalakun
Melissa Brauner Blom
Sérgio J. Azevedo
Maira Caleffi
Roberto Giugliani
Lavinia Schüler-Faccini
Publikationsdatum: 01.06.2007
Verlag: Kluwer Academic Publishers-Plenum Publishers
Erschienen in: Journal of Genetic Counseling / Ausgabe 3/2007
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-006-9073-0

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